Abstract

Patients with chronic granulomatous disease (CGD) suffer from severe bacterial and fungal infections and deregulated inflammation, which are often associated with granuloma formation. We describe a 2-year-old boy who was seemingly healthy at the age of 1 year when a conventional chest radiograph was taken to exclude pulmonary aspiration of a piece of apple. Incidentally, a space-occupying mediastinal mass was revealed that was further evaluated by magnetic resonance imaging. Varying solid and also cystic, septated parts of the mass could be discerned and it was considered to be a teratoma. Removal of the mass by surgery was arduous because of adhesiveness to surrounding areas and led to severe complications. Unexpectedly, histopathologic examination revealed massive acute granulomatous inflammation with liquefied thymic cysts. X-linked CGD was subsequently diagnosed by a dihydrorhodamine 123 assay and sequencing of the CYBB gene (hotspot mutation c.742-743insA). This is the third example that we are aware of, where CGD granulomas were mistaken for neoplasms. The other 2 patients were initially believed to have tumors of the stomach and the urinary bladder, respectively. All patients initially received inadequate treatment. We discuss possible strategies to avoid such tragic confusions.